Cortical myoclonus in angelman syndrome

Angelman syndrome (AS) results from lack of genetic contribution from maternal chromosome 15q11–13. This region encompasses three GABAA receptor subunit genes (β3, α5, and γ3). The characteristic phenotype of AS is severe mental retardation, ataxic gait, tremulousness, and jerky movements. We studie...

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Veröffentlicht in:	Annals of neurology 1996-07, Vol.40 (1), p.39-48
Hauptverfasser:	Guerrini, Renzo, Bonanni, Paolo, de Lorey, Timothy M., Serratosa, José M., Moncla, Anne, Malzac, Perrine, Dravet, Charlotte, Igvet, Marie Odile, Bureau, Michelle, Genton, Pierre, Suisse, Georges, Thomas, Pierre, Sartucci, Ferdinando, Simi, Paolo
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Angelman Syndrome - complications Angelman Syndrome - genetics Anticonvulsants - therapeutic use Biological and medical sciences Cerebral Cortex - physiopathology Child Child, Preschool Chromosomes, Human, Pair 15 Electroencephalography Evoked Potentials, Motor Evoked Potentials, Somatosensory Female Gene Deletion Haplotypes Humans Male Medical sciences Myoclonus - complications Myoclonus - drug therapy Myoclonus - physiopathology Nervous system (semeiology, syndromes) Nervous system as a whole Neurology Phenotype Piracetam - therapeutic use Polymerase Chain Reaction Receptors, GABA - genetics
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Zusammenfassung:	Angelman syndrome (AS) results from lack of genetic contribution from maternal chromosome 15q11–13. This region encompasses three GABAA receptor subunit genes (β3, α5, and γ3). The characteristic phenotype of AS is severe mental retardation, ataxic gait, tremulousness, and jerky movements. We studied the movement disorder in 11 AS patients, aged 3 to 28 years. Two patients had paternal uniparental disomy for chromosome 15, 8 had a
ISSN:	0364-5134 1531-8249
DOI:	10.1002/ana.410400109